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Gene : TBL1XR1 Homo sapiens

Name  ? TBL1X receptor 1 Cytological Location  3q26.32
Brief Description  TBL1X receptor 1
Description  This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]
  • synonyms:
  • C21,
  • TBLR1,
  • DC42,
  • IRA1,
  • TBL1XR1,
  • TBLR1,
  • uc003fiw.5,
  • C21,
  • AK022956,
  • transducin beta like 1 X-linked receptor 1,
  • MRD41,
  • HGNC:29529,
  • FLJ12894,
  • NM_024665,
  • transducin (beta)-like 1X-linked receptor 1,
  • DC42,
  • OTTHUMG00000157140,
  • IRA1
  • identifiers:
  • 79718,
  • ENSG00000177565,
  • TBL1XR1

Genome feature

Region: gene ? Length: 178139  
Location: 3:177019344-177197482 reverse strand Cyto location: 3q26.32

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46 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

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Gene --> Proteins.


Gene Report --> GWAS hit


2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



46 Pathways

655 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results